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Table 1 Clinical information on 211 published patients with HMGCL deficiency

From: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

Sex female n = 78
male n = 101
not reported n = 32
Age at last clinical follow-up median 48 months (n = 155, range: 72 h to 40 years)
Parental consanguinity 49% (60/122)
Deceased patients 16.1% (34/211)
Median age at disease onset 4 months (n = 146)
Patients with at least 1 metabolic decompensation 95.3% (163/171)
Patients with normal psychomotor development 62.6% (87/139)
Patients with developmental delay or distinct neurologic abnormalities 31.7% (44/139)